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C2orf16
Identifiers
Aliases	C2orf16, chromosome 2 open reading frame 16
External IDs	HomoloGene: 82476; GeneCards: C2orf16; OMA: C2orf16 - orthologs
Gene location ( Human) Chr. Chromosome 2 (human) [1] Band 2p23.3 Start 27,537,386 bp [1] End 27,582,720 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm right testis left testis stromal cell of endometrium muscle tissue ganglionic eminence islet of Langerhans ventricular zone right lobe of liver right adrenal cortex n/a More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 84226 102635566 Ensembl ENSG00000221843 n/a UniProt Q68DN1 n/a RefSeq (mRNA) NM_032266 XM_017321194 RefSeq (protein) NP_115642 n/a Location (UCSC) Chr 2: 27.54 – 27.58 Mb n/a PubMed search [2] [3]
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C2orf16
Identifiers
Aliases	C2orf16, chromosome 2 open reading frame 16
External IDs	HomoloGene: 82476; GeneCards: C2orf16; OMA: C2orf16 - orthologs
Gene location ( Human) Chr. Chromosome 2 (human) [1] Band 2p23.3 Start 27,537,386 bp [1] End 27,582,720 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm right testis left testis stromal cell of endometrium muscle tissue ganglionic eminence islet of Langerhans ventricular zone right lobe of liver right adrenal cortex n/a More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 84226 102635566 Ensembl ENSG00000221843 n/a UniProt Q68DN1 n/a RefSeq (mRNA) NM_032266 XM_017321194 RefSeq (protein) NP_115642 n/a Location (UCSC) Chr 2: 27.54 – 27.58 Mb n/a PubMed search [4] [5]
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MKKS
Identifiers
Aliases	MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein
External IDs	OMIM: 604896; MGI: 1891836; HomoloGene: 10318; GeneCards: MKKS; OMA: MKKS - orthologs
Gene location ( Mouse) Chr. Chromosome 2 (mouse) [6] Band 2|2 F3 Start 136,715,700 bp [6] End 136,733,309 bp [6]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus caudate nucleus left ventricle Brodmann area 9 nucleus accumbens Top expressed in dentate gyrus of hippocampal formation granule cell muscle of thigh morula right kidney blastocyst proximal tubule ventricular zone duodenum tail of embryo embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding ATP binding protein folding chaperone activity unfolded protein binding Cellular component cytosol centrosome kinociliary basal body intracellular anatomical structure microtubule organizing center motile cilium cytoskeleton ciliary basal body cytoplasm nucleus membrane integral component of membrane Biological process pigment granule aggregation in cell center regulation of cilium beat frequency involved in ciliary motility chaperone-mediated protein complex assembly negative regulation of actin filament polymerization negative regulation of appetite by leptin-mediated signaling pathway response to stimulus negative regulation of blood pressure convergent extension involved in gastrulation leptin-mediated signaling pathway vasodilation intracellular transport negative regulation of gene expression regulation of stress fiber assembly detection of mechanical stimulus involved in sensory perception of sound heart looping sensory perception of smell heart development cartilage development face development determination of left/right symmetry negative regulation of GTPase activity protein folding melanosome transport spermatid development artery smooth muscle contraction cerebral cortex development positive regulation of multicellular organism growth social behavior photoreceptor cell maintenance response to leptin hippocampus development gonad development fat cell differentiation striatum development visual perception brain morphogenesis 'de novo' protein folding chaperone-mediated protein folding non-motile cilium assembly cilium assembly developmental process Sources: Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8195 59030 Ensembl n/a ENSMUSG00000027274 UniProt Q9NPJ1 Q9HB66 Q9JI70 RefSeq (mRNA) NM_018848 NM_170784 NM_001394148 NM_001394149 NM_001141946 NM_001286981 NM_001286983 NM_021527 RefSeq (protein) NP_061336 NP_740754 NP_001135418 NP_001273910 NP_001273912 NP_067502 Location (UCSC) n/a Chr 2: 136.72 – 136.73 Mb PubMed search [7] [8]
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MKKS
Identifiers
Aliases	MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein
External IDs	OMIM: 604896; MGI: 1891836; HomoloGene: 10318; GeneCards: MKKS; OMA: MKKS - orthologs
Gene location ( Mouse) Chr. Chromosome 2 (mouse) [6] Band 2|2 F3 Start 136,715,700 bp [6] End 136,733,309 bp [6]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus caudate nucleus left ventricle Brodmann area 9 nucleus accumbens Top expressed in dentate gyrus of hippocampal formation granule cell muscle of thigh morula right kidney blastocyst proximal tubule ventricular zone duodenum tail of embryo embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding ATP binding protein folding chaperone activity unfolded protein binding Cellular component cytosol centrosome kinociliary basal body intracellular anatomical structure microtubule organizing center motile cilium cytoskeleton ciliary basal body cytoplasm nucleus membrane integral component of membrane Biological process pigment granule aggregation in cell center regulation of cilium beat frequency involved in ciliary motility chaperone-mediated protein complex assembly negative regulation of actin filament polymerization negative regulation of appetite by leptin-mediated signaling pathway response to stimulus negative regulation of blood pressure convergent extension involved in gastrulation leptin-mediated signaling pathway vasodilation intracellular transport negative regulation of gene expression regulation of stress fiber assembly detection of mechanical stimulus involved in sensory perception of sound heart looping sensory perception of smell heart development cartilage development face development determination of left/right symmetry negative regulation of GTPase activity protein folding melanosome transport spermatid development artery smooth muscle contraction cerebral cortex development positive regulation of multicellular organism growth social behavior photoreceptor cell maintenance response to leptin hippocampus development gonad development fat cell differentiation striatum development visual perception brain morphogenesis 'de novo' protein folding chaperone-mediated protein folding non-motile cilium assembly cilium assembly developmental process Sources: Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8195 59030 Ensembl n/a ENSMUSG00000027274 UniProt Q9NPJ1 Q9HB66 Q9JI70 RefSeq (mRNA) NM_018848 NM_170784 NM_001394148 NM_001394149 NM_001141946 NM_001286981 NM_001286983 NM_021527 RefSeq (protein) NP_061336 NP_740754 NP_001135418 NP_001273910 NP_001273912 NP_067502 Location (UCSC) n/a Chr 2: 136.72 – 136.73 Mb PubMed search [9] [10]
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RELN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2ddu, 2e26, 2DDU, 2E26, 3A7Q
Identifiers
Aliases	RELN, LIS2, PRO1598, RL, reelin, ETL7
External IDs	OMIM: 600514; MGI: 103022; HomoloGene: 3699; GeneCards: RELN; OMA: RELN - orthologs
Gene location ( Human) Chr. Chromosome 7 (human) [1] Band 7q22.1 Start 103,471,381 bp [1] End 103,989,658 bp [1]
Gene location ( Mouse) Chr. Chromosome 5 (mouse) [6] Band 5 A3|5 9.98 cM Start 22,089,452 bp [6] End 22,549,700 bp [6]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory bulb cerebellar vermis cerebellar hemisphere paraflocculus of cerebellum right hemisphere of cerebellum spinal ganglia trigeminal ganglion endothelial cell tibial nerve pons Top expressed in ciliary body cerebellar vermis lobe of cerebellum iris olfactory bulb sciatic nerve endothelial cell of lymphatic vessel superior colliculus paraventricular nucleus of hypothalamus piriform cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding peptidase activity hydrolase activity serine-type peptidase activity lipoprotein particle receptor binding very-low-density lipoprotein particle receptor binding Cellular component cytoplasm dendrite plasma membrane extracellular region extracellular space membrane extracellular matrix neuron projection Biological process NMDA glutamate receptor clustering positive regulation of lateral motor column neuron migration dendrite development proteolysis cerebral cortex development lateral motor column neuron migration positive regulation of phosphatidylinositol 3-kinase signaling positive regulation of TOR signaling long-term memory multicellular organism development receptor localization to synapse postsynaptic density protein 95 clustering ventral spinal cord development protein localization to synapse forebrain development long-term potentiation regulation of gene expression layer formation in cerebral cortex cell migration learning associative learning cell adhesion hippocampus development spinal cord patterning cerebral cortex tangential migration positive regulation of peptidyl-tyrosine phosphorylation glial cell differentiation peptidyl-tyrosine phosphorylation positive regulation of excitatory postsynaptic potential positive regulation of CREB transcription factor activity positive regulation of protein kinase activity modulation of chemical synaptic transmission positive regulation of AMPA receptor activity brain development central nervous system development response to pain positive regulation of synapse maturation positive regulation of long-term synaptic potentiation cell morphogenesis involved in differentiation neuron migration positive regulation of neuron projection development positive regulation of small GTPase mediated signal transduction positive regulation of synaptic transmission, glutamatergic regulation of behavior positive regulation of dendritic spine morphogenesis reelin-mediated signaling pathway regulation of NMDA receptor activity positive regulation of protein tyrosine kinase activity axon guidance Sources: Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5649 19699 Ensembl ENSG00000189056 ENSMUSG00000042453 UniProt P78509 Q60841 RefSeq (mRNA) NM_173054 NM_005045 NM_011261 NM_001310464 RefSeq (protein) NP_005036 NP_774959 NP_001297393 NP_035391 Location (UCSC) Chr 7: 103.47 – 103.99 Mb Chr 5: 22.09 – 22.55 Mb PubMed search [11] [12]
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RELN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2ddu, 2e26, 2DDU, 2E26, 3A7Q
Identifiers
Aliases	RELN, LIS2, PRO1598, RL, reelin, ETL7
External IDs	OMIM: 600514; MGI: 103022; HomoloGene: 3699; GeneCards: RELN; OMA: RELN - orthologs
Gene location ( Human) Chr. Chromosome 7 (human) [1] Band 7q22.1 Start 103,471,381 bp [1] End 103,989,658 bp [1]
Gene location ( Mouse) Chr. Chromosome 5 (mouse) [6] Band 5 A3|5 9.98 cM Start 22,089,452 bp [6] End 22,549,700 bp [6]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory bulb cerebellar vermis cerebellar hemisphere paraflocculus of cerebellum right hemisphere of cerebellum spinal ganglia trigeminal ganglion endothelial cell tibial nerve pons Top expressed in ciliary body cerebellar vermis lobe of cerebellum iris olfactory bulb sciatic nerve endothelial cell of lymphatic vessel superior colliculus paraventricular nucleus of hypothalamus piriform cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding peptidase activity hydrolase activity serine-type peptidase activity lipoprotein particle receptor binding very-low-density lipoprotein particle receptor binding Cellular component cytoplasm dendrite plasma membrane extracellular region extracellular space membrane extracellular matrix neuron projection Biological process NMDA glutamate receptor clustering positive regulation of lateral motor column neuron migration dendrite development proteolysis cerebral cortex development lateral motor column neuron migration positive regulation of phosphatidylinositol 3-kinase signaling positive regulation of TOR signaling long-term memory multicellular organism development receptor localization to synapse postsynaptic density protein 95 clustering ventral spinal cord development protein localization to synapse forebrain development long-term potentiation regulation of gene expression layer formation in cerebral cortex cell migration learning associative learning cell adhesion hippocampus development spinal cord patterning cerebral cortex tangential migration positive regulation of peptidyl-tyrosine phosphorylation glial cell differentiation peptidyl-tyrosine phosphorylation positive regulation of excitatory postsynaptic potential positive regulation of CREB transcription factor activity positive regulation of protein kinase activity modulation of chemical synaptic transmission positive regulation of AMPA receptor activity brain development central nervous system development response to pain positive regulation of synapse maturation positive regulation of long-term synaptic potentiation cell morphogenesis involved in differentiation neuron migration positive regulation of neuron projection development positive regulation of small GTPase mediated signal transduction positive regulation of synaptic transmission, glutamatergic regulation of behavior positive regulation of dendritic spine morphogenesis reelin-mediated signaling pathway regulation of NMDA receptor activity positive regulation of protein tyrosine kinase activity axon guidance Sources: Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5649 19699 Ensembl ENSG00000189056 ENSMUSG00000042453 UniProt P78509 Q60841 RefSeq (mRNA) NM_173054 NM_005045 NM_011261 NM_001310464 RefSeq (protein) NP_005036 NP_774959 NP_001297393 NP_035391 Location (UCSC) Chr 7: 103.47 – 103.99 Mb Chr 5: 22.09 – 22.55 Mb PubMed search [13] [14]
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SPI1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1PUE
Identifiers
Aliases	SPI1, OF, PU.1, SFPI1, SPI-1, SPI-A, Spi-1 proto-oncogene, AGM10
External IDs	OMIM: 165170; MGI: 98282; HomoloGene: 2346; GeneCards: SPI1; OMA: SPI1 - orthologs
Gene location ( Human) Chr. Chromosome 11 (human) [1] Band 11p11.2 Start 47,354,860 bp [1] End 47,378,547 bp [1]
Gene location ( Mouse) Chr. Chromosome 2 (mouse) [6] Band 2 E1|2 50.44 cM Start 90,912,735 bp [6] End 90,946,101 bp [6]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte monocyte right lung upper lobe of left lung spleen blood bone marrow cells appendix right coronary artery lymph node Top expressed in granulocyte tibiofemoral joint mesenteric lymph nodes stroma of bone marrow spleen blood medulla of thymus embryo lip ankle joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein binding RNA binding transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity NFAT protein binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription factor binding Cellular component nucleus nucleoplasm transcription regulator complex Biological process myeloid leukocyte differentiation regulation of transcription, DNA-templated cellular response to ethanol somatic stem cell population maintenance lymphocyte differentiation regulation of erythrocyte differentiation myeloid dendritic cell differentiation negative regulation of transcription by RNA polymerase II negative regulation of MHC class II biosynthetic process lymphoid progenitor cell differentiation transcription, DNA-templated macrophage differentiation anatomical structure regression negative regulation of histone H4 acetylation negative regulation of gene expression, epigenetic vasculature development granulocyte differentiation apoptotic process involved in blood vessel morphogenesis histone H3 acetylation erythrocyte differentiation hypermethylation of CpG island positive regulation of pri-miRNA transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II pri-miRNA transcription by RNA polymerase II cell differentiation interleukin-6-mediated signaling pathway Sources: Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6688 20375 Ensembl ENSG00000066336 ENSMUSG00000002111 UniProt P17947 P17433 RefSeq (mRNA) NM_001080547 NM_003120 NM_011355 NM_001378898 NM_001378899 RefSeq (protein) NP_001074016 NP_003111 NP_035485 NP_001365827 NP_001365828 Location (UCSC) Chr 11: 47.35 – 47.38 Mb Chr 2: 90.91 – 90.95 Mb PubMed search [15] [16]
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SPI1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1PUE
Identifiers
Aliases	SPI1, OF, PU.1, SFPI1, SPI-1, SPI-A, Spi-1 proto-oncogene, AGM10
External IDs	OMIM: 165170; MGI: 98282; HomoloGene: 2346; GeneCards: SPI1; OMA: SPI1 - orthologs
Gene location ( Human) Chr. Chromosome 11 (human) [1] Band 11p11.2 Start 47,354,860 bp [1] End 47,378,547 bp [1]
Gene location ( Mouse) Chr. Chromosome 2 (mouse) [6] Band 2 E1|2 50.44 cM Start 90,912,735 bp [6] End 90,946,101 bp [6]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte monocyte right lung upper lobe of left lung spleen blood bone marrow cells appendix right coronary artery lymph node Top expressed in granulocyte tibiofemoral joint mesenteric lymph nodes stroma of bone marrow spleen blood medulla of thymus embryo lip ankle joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein binding RNA binding transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity NFAT protein binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription factor binding Cellular component nucleus nucleoplasm transcription regulator complex Biological process myeloid leukocyte differentiation regulation of transcription, DNA-templated cellular response to ethanol somatic stem cell population maintenance lymphocyte differentiation regulation of erythrocyte differentiation myeloid dendritic cell differentiation negative regulation of transcription by RNA polymerase II negative regulation of MHC class II biosynthetic process lymphoid progenitor cell differentiation transcription, DNA-templated macrophage differentiation anatomical structure regression negative regulation of histone H4 acetylation negative regulation of gene expression, epigenetic vasculature development granulocyte differentiation apoptotic process involved in blood vessel morphogenesis histone H3 acetylation erythrocyte differentiation hypermethylation of CpG island positive regulation of pri-miRNA transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II pri-miRNA transcription by RNA polymerase II cell differentiation interleukin-6-mediated signaling pathway Sources: Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6688 20375 Ensembl ENSG00000066336 ENSMUSG00000002111 UniProt P17947 P17433 RefSeq (mRNA) NM_001080547 NM_003120 NM_011355 NM_001378898 NM_001378899 RefSeq (protein) NP_001074016 NP_003111 NP_035485 NP_001365827 NP_001365828 Location (UCSC) Chr 11: 47.35 – 47.38 Mb Chr 2: 90.91 – 90.95 Mb PubMed search [17] [18]
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See Module talk:Infobox gene/testcases 2.